Overview

Cerebro-oculo-facio-skeletal (COFS) syndrome is a degenerative disorder that primarily involves the brain, eyes, and spinal cord.[1] Affected individuals have mild to severe intellectual disability, severely reduced muscle tone (hypotonia), impaired reflexes, vision impairment, and involuntary eye movements. Children with COFS syndrome have distinctive facial features, including low-set ears, small eyes, small head size (microcephaly), and a small jaw (micrognathia). They may also have abnormalities of the skull, limbs, heart, and kidneys.[2] Individuals with COFS syndrome are often diagnosed at birth. In many cases, the cause of the disorder is unknown. Some children with this condition have mutations in the ERCC1, ERCC2, ERCC5, or ERCC6 gene.[3] When an individual has the features of COFS syndrome and a mutation in the ERCC6 gene, they are said to have Cockayne syndrome type II.[1] COFS syndrome is inherited in an autosomal recessive manner.[2] Most children with this condition do not live past age 5.[1] Treatment involves supportive care and is based on an individual's symptoms.[1]

The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

In Depth Information

The Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.

Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.

PubMed is a searchable database of medical literature and lists journal articles that discuss Cerebro-oculo-facio-skeletal syndrome. Click on the link to view a sample search on this topic.